{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T11:45:09Z","timestamp":1788349509304,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,5,3]],"date-time":"2018-05-03T00:00:00Z","timestamp":1525305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Interstitial microdeletions of chromosome 1p34.3p34.2 are rare, but are continuing to be identified by the use of chromosome microarray. There have been fewer than 10 individuals identified who have deletions of the 1p34.3p34.2 region; all of these previously described individuals have deletions of the <jats:italic><jats:styled-content style=\"fixed-case\">AGO<\/jats:styled-content>1, <jats:styled-content style=\"fixed-case\">AGO<\/jats:styled-content>3, <jats:styled-content style=\"fixed-case\">GRIK<\/jats:styled-content>3, <jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic>, or <jats:italic><jats:styled-content style=\"fixed-case\">RIMS<\/jats:styled-content>3<\/jats:italic> genes. Haploinsufficiency of these genes has been associated with neurodevelopmental delays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Chromosome microarray, quantitative <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>, and fluorescence in\u00a0situ hybridization were performed with <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> extracted from peripheral blood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Chromosome microarray identified a 2.3\u00a0Mb 1p34.3p34.2 one copy deletion in our patient with global developmental delay, mild intellectual disability, delayed bone age, bilateral vesicoureteral reflux, vocal cord paralysis, right aberrant subclavian artery, kyphoscoliosis, bilateral metatarsus adductus, and valgus knee deformity. This deletion was confirmed by quantitative <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> and does not include the <jats:italic><jats:styled-content style=\"fixed-case\">AGO<\/jats:styled-content>1, <jats:styled-content style=\"fixed-case\">AGO<\/jats:styled-content>3, <jats:styled-content style=\"fixed-case\">GRIK<\/jats:styled-content>3, <jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic>, or <jats:italic><jats:styled-content style=\"fixed-case\">RIMS<\/jats:styled-content>3<\/jats:italic> genes. Subsequent <jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content> testing of the parents was negative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Haploinsufficiency of the 1p34.3p34.2 region, including the <jats:italic><jats:styled-content style=\"fixed-case\">SNIP<\/jats:styled-content>1<\/jats:italic> gene and excluding the five genes listed above, is responsible for the neurocognitive delays and other symptoms as identified in our patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.409","type":"journal-article","created":{"date-parts":[[2018,5,4]],"date-time":"2018-05-04T00:34:50Z","timestamp":1525394090000},"page":"673-677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Interstitial microdeletion of the 1p34.3p34.2 region"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0725-2871","authenticated-orcid":false,"given":"Joseph E.","family":"Jacher","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases Division of Pediatric Genetics Metabolism &amp; Genomic Medicine University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases Division of Pediatric Genetics Metabolism &amp; Genomic Medicine University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0288-y"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10538"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.11.006"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M103819200"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1101\/gad.14.13.1605","article-title":"A novel Smad nuclear interacting protein, SNIP1, suppresses p300\u2010dependent TGF\u2010beta signal transduction","volume":"14","author":"Kim R. 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